RNA结合基序蛋白20相关心肌病的研究进展  

The progress of RBM20 related cardiomyopathy

作　　者：孙肖云 申阳[1,2] 洪葵 SUN Xiaoyun;SHEN Yang;HONG Kui(Department of Medical Genetics,The Second Affiliated Hospital of Nanchang University,Nanchang,330006,China;Jiangxi Key Laboratory of Molecular Medicine;Department of Cardiology,The Second Affiliated Hospital of Nanchang University)

机构地区：[1]南昌大学第二附属医院医学遗传科,南昌330006 [2]江西省分子医学重点实验室 [3]南昌大学第二附属医院心血管内科

出　　处：《临床心血管病杂志》2023年第10期761-767,共7页Journal of Clinical Cardiology

基　　金：国家自然科学基金项目(No:31860320);江西省青年科学基金项目(No:20181BAB215030)。

摘　　要：扩张型心肌病(DCM)是临床常见的原发性心肌病之一,是造成心脏性猝死的重要原因,至今已报道51个相关致病基因。不同基因导致的DCM亚型具有特异性临床特征与遗传异质性。其中RNA结合基序蛋白20(RNA-binding motif protein 20,RBM20)编码心肌特异性mRNA剪接调节因子,是DCM明确致病基因之一。RBM20基因相关DCM具有遗传外显率高、发病年龄早、心脏猝死率高等严重临床表现。其独特的致病分子机制也显示出其作为心力衰竭潜在治疗靶点的可能性。本文将对RBM20相关DCM的发病机理、分子遗传学、临床特征与治疗进行进展性综述,对于DCM亚型的研究强调了基因检测在心血管精准医疗中的重要性。Dilated cardiomyopathy(DCM)is one of the common inherited cardiomyopathies and an important cause of sudden cardiac death.Up to date,51 DCM-related genes have been reported.Different gene-related DCM subtypes have specific clinical characteristics and genetic heterogeneity.Among them,the gene of RNA-binding motif protein 20(RBM20)encodes myocardium specific mRNA splicing regulator,which is one of the definitive pathogenic genes of DCM.RBM20-related DCM presents severe clinical manifestations such as high genetic penetrance,early onset age and high rate of sudden cardiac death.The unique pathogenic molecular mechanism of RBM20 also implies its potential as a therapeutic target for heart failure.This review will conclude the pathogenesis,pathology,molecular genetics,clinical features,and treatment of RBM20-associated dilated cardiomyopathy.The research on DCM subtype emphasizes the importance of genetic testing in cardiovascular precision medicine.

关 键 词：扩张型心肌病 RNA结合基序蛋白20 RNA结合蛋白 基因检测 

分 类 号：R542.2[医药卫生—心血管疾病]